Hereditary ataxia with onset in adulthood
Gene: VRK1
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 19 Sep 2019, 1:17 p.m. | Last Modified: 19 Sep 2019, 1:17 p.m.
Panel Version: 1.203
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Only two families reported with the pontocerebellar hypoplasia phenotype and no functional evidence for gene. In addition slightly worrying that phenotypes without pontocerebellar hypoplasia reported with similar AR null variantsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia 1A, 607596
Variants in this GENE are reported as part of current diagnostic practice
Gene: vrk1 has been classified as Amber List (Moderate Evidence).
Added phenotypes Pontocerebellar hypoplasia 1A, 607596 for gene: VRK1
Source NHS GMS was added to VRK1.
Source Wessex and West Midlands GLH was added to VRK1.
Louise Daugherty: Comment on phenotypes: Implica
Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia 1A (#607596) to Pontocerebellar hypoplasia 1A, 607596
gene: VRK1 was added gene: VRK1 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596)